Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
JAKMIP1	152789	broad.mit.edu	37	4	6050593	6050593	+	Silent	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr4:6050593C>A	ENST00000409021.3	-	16	2468	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L	JAKMIP1_ENST00000409371.3_Silent_p.L488L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	444					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTCACACAGGGCAAGCA	0.468000													3	41					0.115264	0.128071	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	rs139646526	byFrequency	TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:51175661T>C	ENST00000440970.1	-	2	612	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632000													3	36					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131519652	131519652	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:131519652C>T	ENST00000423981.1	+	2	117	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	AMER3_ENST00000321420.4_Silent_p.L3L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CAGCATGGAGCTGAAGAGAGG	0.627000													3	9					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52436620	52436620	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:52436620T>A	ENST00000460680.1	-	16	2525	c.2054A>T	c.(2053-2055)gAa>gTa	p.E685V	BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	685	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E685V(1)|p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCTCACCTTCCTGAGCCAG	0.552000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							38	1					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831391	89831391	+	Silent	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:89831391G>C	ENST00000389301.3	-	28	2715	c.2685C>G	c.(2683-2685)ccC>ccG	p.P895P	FANCA_ENST00000568369.1_Silent_p.P895P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	895					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAAGGTGCAAGGGTCTCCAGG	0.527000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	38					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42912150	42912150	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:42912150A>G	ENST00000244289.4	-	4	1910	c.1634T>C	c.(1633-1635)aTc>aCc	p.I545T	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	545					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CATCTCGGTGATGTTCCAGAA	0.597000													4	14					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69000029	69000029	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:69000029C>T	ENST00000288368.4	+	19	2375	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	700	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTGTTGTGCATGCTGTAGG	0.453000													45	109					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39137347	39137347	+	Silent	SNP	A	A	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr17:39137347A>T	ENST00000377755.4	-	4	778	c.744T>A	c.(742-744)acT>acA	p.T248T	KRT40_ENST00000398486.2_Silent_p.T248T			Q6A162	K1C40_HUMAN	keratin 40	248	Linker 12.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGTGGGGGCAGTGTCCAGCT	0.537000													4	156					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494140	55494140	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:55494140C>T	ENST00000543010.1	+	6	1217	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000263437.6_Silent_p.G355G|NLRP2_ENST00000537859.1_Silent_p.G336G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	358	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTGGAGGGCTTCCTGGAGG	0.622000													7	19					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62236107	62236107	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:62236107T>C	ENST00000266068.1	-	2	696	c.218A>G	c.(217-219)gAa>gGa	p.E73G	GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	73					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TAACACGGCTTCCTTGAGCTG	0.577000													27	50					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102576331	102576331	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:102576331C>G	ENST00000327680.2	+	10	1409	c.946C>G	c.(946-948)Ccc>Gcc	p.P316A	PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.P397A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	397					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						ACATAGGTCTCCCACACAGGT	0.338000													18	25					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125223532	125223532	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:125223532T>G	ENST00000251775.4	-	2	222	c.198A>C	c.(196-198)gaA>gaC	p.E66D	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	66	PX.				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAGTTCGTTTTTCTGCTTCTG	0.353000													22	1					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35443784	35443784	+	Silent	SNP	G	G	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:35443784G>A	ENST00000237536.4	-	5	2402	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N	SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000357779.3_Silent_p.N449N	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	449										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGCACACTCGTTGTCCAGAC	0.647000													11	12					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105472295	105472295	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472295C>T	ENST00000361360.2	+	1	327	c.327C>T	c.(325-327)gcC>gcT	p.A109A	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	109	Ala-rich.|Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgccgctgccgccg	0.781000													3	0					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348000			Mis		uveal melanoma								20	41					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114823293	114823293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:114823293G>C	ENST00000310346.4	-	7	1409	c.743C>G	c.(742-744)tCa>tGa	p.S248*	TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	248					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGCATTCTTGACATTCTGTG	0.478000													40	50					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169509628	169509628	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr1:169509628A>G	ENST00000367796.3	-	13	4916	c.4715T>C	c.(4714-4716)aTt>aCt	p.I1572T	F5_ENST00000367797.3_Missense_Mutation_p.I1567T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1567	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCATGCTGCAATGTTGTCAGG	0.393000													35	23					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:51873020C>A	ENST00000371497.5	+	2	3910	c.3023C>A	c.(3022-3024)gCg>gAg	p.A1008E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468000													3	52					0.150653	0.155848	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126094695	126094695	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:126094695A>G	ENST00000318410.7	-	4	696	c.347T>C	c.(346-348)cTc>cCc	p.L116P	KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	116					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCCTTCATTGAGATCATCTAG	0.264000													64	60					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	36					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14200132	14200132	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:14200132C>T	ENST00000285021.7	-	9	1465	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	XPC_ENST00000449060.2_Silent_p.P380P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	417	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGGCCATGCGGACGTCGCT	0.607000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	57					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	33952644	33952644	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr18:33952644C>T	ENST00000257209.4	+	3	396	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000359247.4_Splice_Site_p.R92W	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCTCGTTAGGCGGGGCAAGAA	0.522000													13	11					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327540	67327540	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:67327540C>T	ENST00000304372.5	-	12	2180	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	709						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCCCCTTGTCTTTCGCTCCA	0.597000													27	65					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105472298	105472298	+	Silent	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472298T>C	ENST00000361360.2	+	1	330	c.330T>C	c.(328-330)gcT>gcC	p.A110A	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	110	Ala-rich.|Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgctgccgccgccg	0.791000													3	0					0	0	1	0	0
